OFC13
MCID: ORF029
MIFTS: 15

Orofacial Cleft 13 (OFC13)

Categories: Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Orofacial Cleft 13

MalaCards integrated aliases for Orofacial Cleft 13:

Name: Orofacial Cleft 13 57 12 13 70
Ofc13 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
orofacial cleft 13:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080406
OMIM® 57 613857
OMIM Phenotypic Series 57 PS119530
MedGen 41 C3151222
SNOMED-CT via HPO 68 253997002 263681008 32958008
UMLS 70 C3151222

Summaries for Orofacial Cleft 13

Disease Ontology : 12 An orofacial cleft characterized by autosomal doninant inhertitance that has material basis in variation in chromosome region 1p33 associated with enrichment of the T allele of SNP rs3827730.

MalaCards based summary : Orofacial Cleft 13, also known as ofc13, is related to orofacial cleft. An important gene associated with Orofacial Cleft 13 is OFC13 (Orofacial Cleft 13). Related phenotypes are retrognathia and micrognathia

More information from OMIM: 613857 PS119530

Related Diseases for Orofacial Cleft 13

Diseases in the Orofacial Cleft family:

Orofacial Cleft 1 Orofacial Cleft 11
Orofacial Cleft 3 Orofacial Cleft 2
Orofacial Cleft 4 Orofacial Cleft 6
Orofacial Cleft 5 Orofacial Cleft 9
Orofacial Cleft 12 Orofacial Cleft 10
Orofacial Cleft 13 Orofacial Cleft 14
Orofacial Cleft 15 Orofacial Cleft 8

Diseases related to Orofacial Cleft 13 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 orofacial cleft 10.9

Symptoms & Phenotypes for Orofacial Cleft 13

Human phenotypes related to Orofacial Cleft 13:

31
# Description HPO Frequency HPO Source Accession
1 retrognathia 31 very rare (1%) HP:0000278
2 micrognathia 31 very rare (1%) HP:0000347
3 malar flattening 31 very rare (1%) HP:0000272
4 cleft soft palate 31 very rare (1%) HP:0000185
5 oligodontia 31 HP:0000677

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Mouth:
cleft lip and/or palate

Clinical features from OMIM®:

613857 (Updated 05-Apr-2021)

Drugs & Therapeutics for Orofacial Cleft 13

Search Clinical Trials , NIH Clinical Center for Orofacial Cleft 13

Genetic Tests for Orofacial Cleft 13

Anatomical Context for Orofacial Cleft 13

Publications for Orofacial Cleft 13

Articles related to Orofacial Cleft 13:

# Title Authors PMID Year
1
Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence. 57
24363063 2014
2
FAF1, a gene that is disrupted in cleft palate and has conserved function in zebrafish. 57
21295280 2011
3
Damage to Orbitofrontal Areas 12 and 13, but Not Area 14, Results in Blunted Attention and Arousal to Socioemotional Stimuli in Rhesus Macaques. 61
33093825 2020

Variations for Orofacial Cleft 13

Expression for Orofacial Cleft 13

Search GEO for disease gene expression data for Orofacial Cleft 13.

Pathways for Orofacial Cleft 13

GO Terms for Orofacial Cleft 13

Sources for Orofacial Cleft 13

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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